Variant report

Variant	nsv1060405
Chromosome Location	chr21:40095523-40159813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1375)
CpG islands
(count:1038)
Chromatin interactive
region (count:84)
LncRNA
region (count:64)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1375 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40145329-40145397	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:40156435-40156752	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:40159401-40160331	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:40159573-40159765	K562	blood:	n/a	n/a
5	ARID3A	chr21:40127694-40128174	HepG2	liver:	n/a	n/a
6	ARID3A	chr21:40152421-40152431	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:40119715-40120026	HepG2	liver:	n/a	n/a
8	ARID3A	chr21:40105859-40106165	HepG2	liver:	n/a	n/a
9	ATF1	chr21:40159493-40159743	K562	blood:	n/a	n/a
10	ATF1	chr21:40113794-40114107	K562	blood:	n/a	n/a
11	ATF1	chr21:40132422-40132621	K562	blood:	n/a	n/a
12	ATF2	chr21:40152793-40153216	GM12878	blood:	n/a	n/a
13	ATF2	chr21:40149376-40149885	GM12878	blood:	n/a	n/a
14	ATF2	chr21:40138963-40139770	GM12878	blood:	n/a	n/a
15	ATF2	chr21:40145173-40145529	GM12878	blood:	n/a	n/a
16	ATF2	chr21:40138982-40139801	GM12878	blood:	n/a	n/a
17	ATF2	chr21:40105771-40106216	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr21:40105944-40106414	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr21:40159459-40159847	A549	lung:	n/a	n/a
20	ATF3	chr21:40159451-40159889	K562	blood:	n/a	n/a
21	ATF3	chr21:40159527-40159705	K562	blood:	n/a	n/a
22	BACH1	chr21:40105812-40106320	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr21:40101766-40101983	H1-hESC	embryonic stem cell:	n/a	chr21:40101916-40101930
24	BATF	chr21:40145258-40145529	GM12878	blood:	n/a	n/a
25	BATF	chr21:40139078-40139381	GM12878	blood:	n/a	n/a
26	BATF	chr21:40159494-40160011	GM12878	blood:	n/a	chr21:40159639-40159649
27	BATF	chr21:40145171-40145631	GM12878	blood:	n/a	n/a
28	BATF	chr21:40138996-40139651	GM12878	blood:	n/a	n/a
29	BCL11A	chr21:40145281-40145627	GM12878	blood:	n/a	chr21:40145429-40145438 chr21:40145430-40145439
30	BCL3	chr21:40159399-40159869	A549	lung:	n/a	chr21:40159642-40159651 chr21:40159641-40159650
31	BCL3	chr21:40159442-40159876	A549	lung:	n/a	chr21:40159642-40159651 chr21:40159641-40159650
32	BCLAF1	chr21:40138925-40139809	GM12878	blood:	n/a	chr21:40138942-40138951 chr21:40139272-40139281
33	BCLAF1	chr21:40138970-40139353	GM12878	blood:	n/a	chr21:40139272-40139281
34	BHLHE40	chr21:40105867-40106230	K562	blood:	n/a	n/a
35	BHLHE40	chr21:40127504-40127798	HepG2	liver:	n/a	n/a
36	BHLHE40	chr21:40159446-40160759	HepG2	liver:	n/a	n/a
37	BHLHE40	chr21:40138902-40139891	GM12878	blood:	n/a	n/a
38	BHLHE40	chr21:40140516-40140756	GM12878	blood:	n/a	n/a
39	BHLHE40	chr21:40105908-40106176	HepG2	liver:	n/a	n/a
40	BHLHE40	chr21:40159534-40159792	GM12878	blood:	n/a	n/a
41	BHLHE40	chr21:40131872-40132544	K562	blood:	n/a	chr21:40132242-40132251 chr21:40132236-40132257 chr21:40132242-40132251 chr21:40132240-40132253 chr21:40132243-40132252
42	BHLHE40	chr21:40105891-40106167	GM12878	blood:	n/a	n/a
43	BHLHE40	chr21:40159459-40159984	K562	blood:	n/a	n/a
44	BRCA1	chr21:40106382-40106579	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr21:40105836-40106143	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr21:40127583-40128066	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr21:40159475-40160137	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr21:40106044-40106244	GM12878	blood:	n/a	n/a
49	CBX3	chr21:40138080-40138400	K562	blood:	n/a	n/a
50	CBX3	chr21:40159467-40159964	K562	blood:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40145923-40145973	NB4	blood:	n/a
2	chr21:40145923-40145973	NB4	blood:	n/a
3	chr21:40124277-40124327	SK-N-SH	brain:	n/a
4	chr21:40124277-40124327	RPTEC	kidney:	n/a
5	chr21:40145361-40145411	BE2_C	brain:	n/a
6	chr21:40124277-40124327	PrEC	prostate:	n/a
7	chr21:40124277-40124327	HEEpiC	esophagus:	n/a
8	chr21:40141756-40141806	NHBE	bronchial:	n/a
9	chr21:40124363-40124413	H1-hESC	embryonic stem cell:	embryo
10	chr21:40145949-40145999	IMR90	lung:	fetal
11	chr21:40124277-40124327	PANC-1	pancreas:	n/a
12	chr21:40141756-40141806	HL-60	blood:	n/a
13	chr21:40146046-40146096	BJ	skin:	n/a
14	chr21:40145404-40145454	PrEC	prostate:	n/a
15	chr21:40141040-40141090	U87	brain:	n/a
16	chr21:40125580-40125630	NHDF-neo	bronchial:	n/a
17	chr21:40145949-40145999	NH-A	brain:	n/a
18	chr21:40124308-40124358	HIPEpiC	eye:	n/a
19	chr21:40141756-40141806	NT2-D1	testis:	n/a
20	chr21:40124308-40124358	H1-hESC	embryonic stem cell:	embryo
21	chr21:40145949-40145999	HRCEpiC	kidney:	n/a
22	chr21:40123107-40123157	U87	brain:	n/a
23	chr21:40141809-40141859	HUVEC	blood vessel:	n/a
24	chr21:40124848-40124898	U87	brain:	n/a
25	chr21:40145361-40145411	LNCaP	prostate:	n/a
26	chr21:40125580-40125630	PrEC	prostate:	n/a
27	chr21:40146046-40146096	AG04449	skin:	fetal
28	chr21:40124363-40124413	K562	blood:	n/a
29	chr21:40125580-40125630	AG04449	skin:	fetal
30	chr21:40145361-40145411	NB4	blood:	n/a
31	chr21:40145949-40145999	MCF-7	breast:	n/a
32	chr21:40145949-40145999	Hela-S3	cervix:	n/a
33	chr21:40124308-40124358	GM12878	blood:	n/a
34	chr21:40124792-40124842	A549	lung:	n/a
35	chr21:40145949-40145999	MCF10A-Er-Src	breast:	n/a
36	chr21:40124792-40124842	AG10803	skin:	n/a
37	chr21:40125580-40125630	SKMC	muscle:	n/a
38	chr21:40123107-40123157	GM12892	blood:	n/a
39	chr21:40145949-40145999	H1-hESC	embryonic stem cell:	embryo
40	chr21:40145923-40145973	HepG2	liver:	n/a
41	chr21:40145923-40145973	SK-N-SH	brain:	n/a
42	chr21:40141569-40141619	HMEC	breast:	n/a
43	chr21:40146149-40146199	GM06990	blood:	n/a
44	chr21:40124848-40124898	PrEC	prostate:	n/a
45	chr21:40145923-40145973	CMK	blood:	n/a
46	chr21:40124363-40124413	ovcar-3	ovarian:	n/a
47	chr21:40145923-40145973	K562	blood:	n/a
48	chr21:40123107-40123157	MCF-7	breast:	n/a
49	chr21:40124792-40124842	NHDF-neo	bronchial:	n/a
50	chr21:40125580-40125630	HMEC	breast:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:40116993..40119222-chr21:40177945..40180622,2	MCF-7	breast:
2	chr21:40105520..40106468-chr21:40509285..40510275,4	K562	blood:
3	chr21:40139801..40142205-chr21:40143628..40147654,4	K562	blood:
4	chr21:39714897..39716784-chr21:40158367..40161064,2	MCF-7	breast:
5	chr21:40105691..40106458-chr21:40454482..40455202,2	MCF-7	breast:
6	chr21:40147066..40150070-chr21:40150504..40153141,3	K562	blood:
7	chr21:40104645..40107795-chr21:40176588..40180305,3	K562	blood:
8	chr21:40131678..40133520-chr21:40176178..40178234,2	K562	blood:
9	chr21:40116268..40119361-chr21:40123830..40126744,3	K562	blood:
10	chr21:40159503..40161040-chr21:40181420..40184054,2	K562	blood:
11	chr21:40105988..40106558-chr21:40455579..40456124,2	MCF-7	breast:
12	chr21:40140717..40143513-chr21:40158331..40160522,2	MCF-7	breast:
13	chr21:40098363..40101350-chr21:40101675..40103757,2	K562	blood:
14	chr21:40159408..40162072-chr21:40163674..40168810,7	MCF-7	breast:
15	chr21:40142694..40145286-chr21:40175526..40177363,2	K562	blood:
16	chr21:40159708..40161955-chr21:40178038..40180627,4	K562	blood:
17	chr21:40156369..40159602-chr21:40175863..40178894,4	K562	blood:
18	chr21:40123857..40126104-chr21:40126225..40128039,2	MCF-7	breast:
19	chr21:40157809..40160879-chr21:40282729..40285436,3	MCF-7	breast:
20	chr21:40099911..40101795-chr21:40177784..40180030,2	K562	blood:
21	chr21:40098284..40100230-chr21:40104570..40106417,2	K562	blood:
22	chr21:40098284..40100230-chr21:40104570..40106417,2	K562	blood:
23	chr21:40126380..40129299-chr21:40174705..40177451,3	MCF-7	breast:
24	chr21:40159737..40161887-chr21:40171918..40174307,2	MCF-7	breast:
25	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
26	chr21:40106344..40108151-chr21:40152083..40153978,2	MCF-7	breast:
27	chr21:40106234..40108594-chr21:40335676..40338028,2	MCF-7	breast:
28	chr21:40147391..40149413-chr21:40156401..40158337,2	MCF-7	breast:
29	chr21:40105541..40106641-chr21:40167843..40169143,4	K562	blood:
30	chr21:40134770..40137394-chr21:40177383..40179634,2	K562	blood:
31	chr21:40094693..40096711-chr21:40100596..40102173,2	K562	blood:
32	chr21:40095547..40097125-chr21:40176802..40179014,2	K562	blood:
33	chr21:40138076..40140463-chr21:40532005..40534792,2	MCF-7	breast:
34	chr21:40127785..40129690-chr21:40154024..40156876,2	MCF-7	breast:
35	chr21:40147066..40150070-chr21:40150504..40153141,3	K562	blood:
36	chr21:40127518..40129462-chr21:40170586..40172913,2	MCF-7	breast:
37	chr21:40105514..40106081-chr21:40176310..40177112,2	MCF-7	breast:
38	chr21:40155047..40156844-chr21:40159379..40161340,2	MCF-7	breast:
39	chr21:40105479..40106305-chr21:40507907..40508515,2	MCF-7	breast:
40	chr21:40154093..40155752-chr21:40174948..40176789,2	MCF-7	breast:
41	chr21:40158554..40160744-chr21:40179736..40182469,2	MCF-7	breast:
42	chr21:40158554..40160478-chr21:40163082..40164922,2	K562	blood:
43	chr21:40112842..40114709-chr21:40120595..40122740,2	K562	blood:
44	chr21:40155047..40156844-chr21:40159379..40161340,2	MCF-7	breast:
45	chr21:40116268..40119361-chr21:40123830..40126744,3	K562	blood:
46	chr21:40129051..40130983-chr21:40175842..40178311,2	K562	blood:
47	chr21:40094693..40096711-chr21:40100596..40102173,2	K562	blood:
48	chr21:40105428..40106530-chr21:40546782..40547826,4	MCF-7	breast:
49	chr21:40124035..40126719-chr21:40139656..40141773,2	MCF-7	breast:
50	chr21:40105509..40106360-chr21:40176536..40177526,2	MCF-7	breast:

(count:64 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
2	lnc-ERG-2	chr21:40140771-40140898	XLOC_014073
3	lnc-ERG-2	chr21:40112808-40112992	NR_027065
4	lnc-ERG-2	chr21:40113245-40113296	XLOC_014073
5	lnc-ERG-2	chr21:40110949-40111253	NONHSAT082122
6	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
7	lnc-ERG-2	chr21:40112240-40112338	XLOC_014073
8	lnc-ERG-2	chr21:40110945-40111253	XLOC_014073
9	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
10	lnc-ERG-2	chr21:40110945-40111253	XLOC_014073
11	lnc-ERG-2	chr21:40119321-40119384	XLOC_014073
12	lnc-ERG-2	chr21:40140771-40140898	XLOC_014073
13	lnc-ERG-2	chr21:40113245-40113296	NONHSAT082118
14	lnc-ERG-2	chr21:40145373-40145401	NONHSAT082118
15	lnc-ERG-2	chr21:40112240-40112338	NONHSAT082118
16	lnc-ERG-2	chr21:40110879-40111253	NONHSAT082118
17	lnc-ERG-2	chr21:40113245-40113296	NONHSAT082122
18	lnc-ERG-2	chr21:40113245-40113296	NR_027065
19	lnc-ERG-2	chr21:40119321-40119384	NR_027065
20	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
21	lnc-ERG-2	chr21:40118223-40118340	NR_027065
22	lnc-ERG-2	chr21:40113245-40113296	XLOC_014073
23	lnc-ERG-2	chr21:40112240-40112338	XLOC_014073
24	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
25	lnc-ERG-2	chr21:40140771-40140898	NONHSAT082122
26	lnc-ERG-2	chr21:40113245-40113296	XLOC_014073
27	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
28	lnc-ERG-2	chr21:40110949-40111253	NR_027065
29	lnc-ERG-2	chr21:40110879-40111253	XLOC_014073
30	lnc-ERG-2	chr21:40113942-40113977	XLOC_014073
31	lnc-ERG-2	chr21:40145373-40145401	XLOC_014073
32	lnc-ERG-2	chr21:40118223-40118342	XLOC_014073
33	lnc-ERG-2	chr21:40119321-40119384	XLOC_014073
34	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
35	lnc-ERG-2	chr21:40145373-40145401	NR_027065
36	lnc-ERG-2	chr21:40113245-40114441	XLOC_014073
37	lnc-ERG-2	chr21:40110945-40111253	XLOC_014073
38	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
39	lnc-ERG-2	chr21:40124131-40124181	XLOC_014073
40	lnc-ERG-2	chr21:40119321-40119384	NONHSAT082118
41	lnc-ERG-2	chr21:40110879-40111253	XLOC_014073
42	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
43	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
44	lnc-ERG-2	chr21:40118223-40118342	NONHSAT082122
45	lnc-ERG-2	chr21:40112240-40112338	XLOC_014073
46	lnc-ERG-2	chr21:40112240-40112338	XLOC_014073
47	lnc-ERG-2	chr21:40112240-40112338	NONHSAT082122
48	lnc-ERG-2	chr21:40118223-40118340	NONHSAT082118
49	lnc-ERG-2	chr21:40110951-40111253	XLOC_014073
50	lnc-ERG-2	chr21:40140769-40140898	XLOC_014073

No data

Variant related genes	Relation type
LINC00114	TF binding region
LINC00114	CpG island
ENSG00000234035	chromatin interactions
ENSG00000157557	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000223806	chromatin interactions
TMX1	miRNA target sites
RNASEH2B	miRNA target sites
TMX3	miRNA target sites
MAP4	miRNA target sites
CD44	miRNA target sites
ENAH	miRNA target sites
ADNP	miRNA target sites
RPL5	miRNA target sites
EN2	miRNA target sites

Extended variants
information (count: 2472 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2472 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73440746	chr21:40095603-40095604	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138005849	chr21:40095615-40095616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543200177	chr21:40095616-40095617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562943920	chr21:40095629-40095630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142589105	chr21:40095639-40095640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150527770	chr21:40095666-40095667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191360237	chr21:40095677-40095678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs57363513	chr21:40095699-40095700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527658426	chr21:40095708-40095709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547411549	chr21:40095714-40095715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117728003	chr21:40095764-40095765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535372451	chr21:40095785-40095786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549117109	chr21:40095910-40095911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568958395	chr21:40096012-40096013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182549414	chr21:40096015-40096016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557553796	chr21:40096041-40096042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577688365	chr21:40096094-40096095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533734158	chr21:40096141-40096142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138473803	chr21:40096184-40096185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556980979	chr21:40096244-40096245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575237150	chr21:40096249-40096250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574335625	chr21:40096276-40096277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542872448	chr21:40096287-40096288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543339283	chr21:40096315-40096316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149233198	chr21:40096317-40096318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576543371	chr21:40096318-40096319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs5843929	chr21:40096326-40096327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545610185	chr21:40096335-40096336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144441822	chr21:40096336-40096337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112524449	chr21:40096342-40096343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2836644	chr21:40096378-40096379	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560951966	chr21:40096399-40096400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187244255	chr21:40096410-40096411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144912646	chr21:40096434-40096435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569168296	chr21:40096461-40096462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200991228	chr21:40096462-40096463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372036884	chr21:40096466-40096467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11088438	chr21:40096469-40096470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113175327	chr21:40096476-40096477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537613779	chr21:40096500-40096501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529471538	chr21:40096501-40096502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71184639	chr21:40096503-40096504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs199754761	chr21:40096508-40096509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551566379	chr21:40096509-40096510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12483100	chr21:40096512-40096513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11910773	chr21:40096516-40096517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145703513	chr21:40096520-40096521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs61624362	chr21:40096532-40096533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs61343452	chr21:40096535-40096536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553956440	chr21:40096536-40096537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Acute myeloid leukemia	17237825	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1469 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40088600-40097000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:40089000-40097200	Weak transcription	Aorta	Aorta
3	chr21:40092200-40095600	Enhancers	Dnd41	blood
4	chr21:40093800-40095600	Enhancers	Fetal Thymus	thymus
5	chr21:40094000-40096800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:40094000-40097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:40095000-40106000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:40095600-40096800	Weak transcription	Dnd41	blood
9	chr21:40096800-40097600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:40096800-40098000	ZNF genes & repeats	Dnd41	blood
11	chr21:40097000-40097600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr21:40097000-40098000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr21:40097200-40098000	ZNF genes & repeats	Aorta	Aorta
14	chr21:40097400-40097800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr21:40097400-40098000	ZNF genes & repeats	NHEK	skin
16	chr21:40097600-40098200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:40097600-40101800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:40097800-40101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:40098000-40101800	Weak transcription	Aorta	Aorta
20	chr21:40098000-40101800	Weak transcription	NHEK	skin
21	chr21:40098000-40105800	Weak transcription	Dnd41	blood
22	chr21:40098200-40098400	Enhancers	Esophagus	oesophagus
23	chr21:40098200-40102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:40098400-40101800	Weak transcription	Esophagus	oesophagus
25	chr21:40099000-40101800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:40101000-40101600	Enhancers	HSMMtube	muscle
27	chr21:40101000-40101800	Enhancers	HSMM	muscle
28	chr21:40101000-40102600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr21:40101400-40102400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:40101400-40102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:40101600-40102000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr21:40101600-40102200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr21:40101600-40102200	Flanking Active TSS	HSMMtube	muscle
34	chr21:40101600-40102600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:40101600-40102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:40101600-40102600	Enhancers	HMEC	breast
37	chr21:40101600-40103000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr21:40101800-40102000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr21:40101800-40102200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr21:40101800-40102200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:40101800-40102200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr21:40101800-40102200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:40101800-40102200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr21:40101800-40102200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:40101800-40102200	Enhancers	Esophagus	oesophagus
46	chr21:40101800-40102200	Flanking Active TSS	HSMM	muscle
47	chr21:40101800-40102200	Enhancers	NHDF-Ad	bronchial
48	chr21:40101800-40102200	Enhancers	NHEK	skin
49	chr21:40101800-40102400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr21:40101800-40102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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